XomeDx® Slice – Epidermolysis Bullosa (EB)
Use
Epidermolysis bullosa (EB) is an inherited skin and connective tissue disease characterized by skin fragility and blister formation with mild trauma. Different inheritance patterns occur: autosomal dominant forms (e.g., EBS involving KRT5, KRT14) and autosomal recessive forms (e.g., EXPH5, TGM5, FERMT1). Dystrophic EB (DEB) involves COL7A1 with dominant or recessive inheritance and often causes scarring. Junctional EB (JEB) involves several genes like COL17A1, LAMA3, LAMB3, LAMC2, ITGA6, ITGB4 with variable severity. Variant forms with phenotypes such as EB with pyloric atresia (ITGA6, ITGB4, PLEC) or EB‑MD (PLEC) exist. Peeling skin syndromes (PSS) involving genes such as CDSN, TGM5 (acral PSS), CHST8, CSTA, SERPINB8, FLG2 may complicate interpretation and may require immunofluorescence studies for clarification. The test helps establish a molecular diagnosis in individuals with clinical or suspected EB, guiding inheritance risk and subtype classification.
Special Instructions
Not provided.
Limitations
Next‑generation sequencing with CNV calling is used to detect sequence variants and most deletions/duplications involving three or more coding exons. Smaller deletions or duplications may not be reliably identified, and loss‑of‑function variants only are reported in FLG2. Reported clinically significant variants are confirmed by an orthogonal method. Interpretation may be complicated in variant phenotypes and may require adjunct immunofluorescence testing.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant